Epidermolysis Bullosa (EB)

Clinical Presentation

• Group of rare, inherited mechanobullous disorders presenting with extreme mucosal and skin fragility.
• Trivial friction/trauma leads to massive blistering and ulceration immediately at birth or shortly after.
• Subtypes: EB Simplex (most common, intraepidermal), Junctional EB (lamina lucida, severe mortality), Dystrophic EB (sublamina densa, profound scarring).
• Aplasia cutis congenita (distinct absence of skin strictly on lower extremities) can be the presenting sign.

Diagnosis & Pathology

• Requires targeted pediatric dermatology consult immediately.
• Diagnostic gold standard: Direct immunofluorescence (IF) mapping and electron microscopy of a freshly induced skin blister.
• Genetic mutation panel for crucial genes (KRT5, KRT14, LAMB3, COL7A1) for definitive subtyping and family counseling.

Strict Safe-Handling Protocol

• ABSOLUTELY NO adhesive tape, standard ECG leads, tight pulse oximetry wraps, or sticky identification bands on the skin. Use hydrogel leads or wrap oximeters in loose soft gauze.
• Lift neonate solely by 'rolling' them onto a soft padded sheet. Never lift from under the axillae/arms.
• Skin lubrication: Heavily coat in thick petrolatum (Aquaphor/Vaseline) continuously.
• Blister management: Do NOT let blisters expand. Lance/pop all new blisters immediately strictly at the base utilizing a sterile needle, while leaving the roof intact as a natural biologic dressing.
• Dressings: Use exclusively non-adherent silicone contact layers (Mepitel) wrapped loosely with soft gauze.

Diagnostic & Management Algorithm

• Epidermolysis Bullosa Care: [START] Blistering noted -> [ACTION] Non-adhesive dressings ONLY (Mepitel) -> [PROCEDURE] Lance blisters with sterile needle -> [GOAL] Prevent infection & promote healing

References

1. Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol.